Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association?

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis with a variable degree of visual impairment. Both sporadic and familial forms of the syndrome have been described, the latter usually showing a dominant pattern of inheritance. The molecular lesion responsible for the syndrome typically involves the connexin 26 (Cx26) gene (GJB2). Most patients display the heterozygous c.148G→A mutation causing the substitution of an aspartic acid for an asparagine at position 50 (p.Asp50Asn), while a few of them show the c.50C→T mutation, implying the substitution of a serine for a phenylalanine at position 17 (p.Ser17Phe). However, even a mutation in the connexin 30 (Cx30) gene (GJB6) has been found in a typical KID patient, thus suggesting a genetic heterogeneity of the syndrome. As connexins are a large family of small integral membrane proteins which influence tissue cornification by modulating the establishment of direct cell-cell communication through gap junction channels, it is likely that defects involving this class of proteins are at the basis of the wellknown increased incidence of squamous cell carcinoma in KID patients

Correlation of Dry Deposition Velocity and Friction Velocity over Different Surfaces for PM2.5 and Particle Number Concentrations

Dry deposition of particles is an important way of aerosol removal from the atmosphere and a key process in surface-atmosphere exchanges. The deposition velocities, Vd, are often parameterised in air quality and climate modelling as function of the friction velocity, u*, atmospheric stability, and particle size (if size-segregated information is available). In this work, a study of the correlation between Vd and u* over different surfaces is presented for both PM2.5 and particle number fluxes. Results indicate an almost linear increase of Vd with u* with slopes similar for PM2.5 fluxes and particle number fluxes over the different surfaces analysed. This means that the ratios Vd/u* tend to collapse over similar values even if Vd and u* are significantly different because u* take into account most of the surface effects. There is a limited difference between stable cases and unstable/neutral cases with slightly lower deposition velocities in stable cases for fixed values of u*. The average value of Vd/u* is 0.010 ± 0.0017 (median 0.0062 ± 0.0015) (considering all stabilities) and 0.0097 ± 0.002 (median 0.005 ± 0.001) for stable cases. This could be the base for an empirical parameterisation of deposition velocities in air quality models

L'avancement des recherches en géoprosodie et le Project AMPER

Depuis 2001, l'Atlas Multimédia Prosodique de l’Espace Roman (AMPER) réunit des dizaines d'équipes de différents laboratoires d'Europe et d'Amérique qui visent à la description et à la comparaison des traits prosodiques des variétés linguistiques romanes. C'est grâce à la rencontre de plusieurs chercheurs (dialectologues, phonéticiens, sociolinguistes, philologues etc.) et à leur décision d'accepter de partager un même paradigme expérimental que les recherches en géoprosodie romane (souhaitées par Contini, 1992) ont commencé à recevoir des contributions importantes avec un objectif commun et dans un cadre structuré. L'adhésion au projet, qui ne s'est pas fixé une date limite pour la cloture des travaux, est ouverte aux contributions de tous les spécialistes du domaine. Ses dimensions et sa popularité dans certains secteurs de la recherche académique internationale, auxquelles a aussi contribué le Laboratori de fonètica de la UB, ont attiré l'attention même de chercheurs qui travaillent dans d'autres cadres théoriques. Si les travaux en cours ne manquent pas de détailler les particularités locales détectées dans des espaces régionaux, une étude qui fasse le point sur la variabilité globale reste encore un objectif ambitieux. Nous essayons de résumer ici quelques unes des réflexions préalables présentées en d'autres occasions, de dresser un bilan sur l'état des travaux et de discuter de nouvelles propositions pour le classement et l'évaluation des données déjà disponibles.Since 2001, the Atlas Multimédia Prosodique de l’Espace Roman (AMPER) has glued several research teams from various laboratories, in Europe and America, aiming to give a description and a comparison of the prosodic features of Romance linguistic varieties. Thanks to the participation of a number of researchers (dialectologists, phoneticians, sociolinguists, philologists and so on) and to their decision to share the same experimental paradigm, studies in Romance geoprosody (fostered by Contini, 1992) began to receive important contributions in view of a common target and within a structured framework. The project does not have a deadline for its achievement and is open to contributions from all involved fields. Its dimensions and its popularity, to whom the Laboratori de fonètica de la UB contributed as well, in certain areas of the international academic research, drew the attention of researchers working within different theoretical frameworks. Even though works in progress are highlighting local peculiarities in regional domains, a general review on global variability is still an ambitious aim. We summarise in this paper some preliminary reflections already presented elsewhere, in order to sketch a balance on the state of the art of the project and to discuss new ideas concerning both the classification and the evaluation of available data

Logica fuzzy e integrazione scolastica

ItSi mostra come la logica fuzzy può essere uno strumento adeguato per affrontare problemi complessi in campo sociale, come quello dell’integrazione scolastica degli alunni stranieri. Si presenta lo studio di un caso in cui, in base ad una indagine svolta con interviste ad insegnanti, vengono elaborati i pesi fuzzy degli obiettivi particolari e delle variabili che rappresentano il fenomeno

New frontiers in time-domain diffuse optics, a review

The recent developments in time-domain diffuse optics that rely on physical concepts (e.g., time-gating and null distance) and advanced photonic components (e.g., vertical cavity source-emitting laser as light sources, single photon avalanche diode, and silicon photomultipliers as detectors, fast-gating circuits, and time-to-digital converters for acquisition) are focused. This study shows how these tools could lead on one hand to compact and wearable time-domain devices for point-of-care diagnostics down to the consumer level and on the other hand to powerful systems with exceptional depth penetration and sensitivity

The Treatment of Acute Diaphyseal Long-bones Fractures with Orthobiologics and Pharmacological Interventions for Bone Healing Enhancement: A Systematic Review of Clinical Evidence

The healing of long bones diaphyseal fractures can be often impaired and eventually end into delayed union and non-union. A number of therapeutic strategies have been proposed in combination with surgical treatment in order to enhance the healing process, such as scaffolds, growth factors, cell therapies and systemic pharmacological treatments. Our aim was to investigate the current evidence of bone healing enhancement of acute long bone diaphyseal fractures

Probe-hosted silicon photomultipliers for time-domain functional near-infrared spectrscopy: phantom and in vivo tests

We report the development of a compact probe for time-domain (TD) functional near-infrared spectroscopy (fNIRS) based on a fast silicon photomultiplier (SiPM) that can be put directly in contact with the sample without the need of optical fibers for light collection. We directly integrated an avalanche signal amplification stage close to the SiPM, thus reducing the size of the detection channel and optimizing the signal immunity to electromagnetic interferences. The whole detection electronics was placed in a plastic screw holder compatible with the electroencephalography standard cap for measurement on brain or with custom probe holders. The SiPM is inserted into a transparent and insulating resin to avoid the direct contact of the scalp with the 100-V bias voltage. The probe was integrated in an instrument for TD fNIRS spectroscopy. The system was characterized on tissue phantoms in terms of temporal resolution, responsivity, linearity, and capability to detect deep absorption changes. Preliminary in vivo tests on adult volunteers were performed to monitor hemodynamic changes in the arm during a cuff occlusion and in the brain cortex during a motor tas